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MIM.123810 2q32.3-q34

Wednesday 29 August 2007

CREB1 code for the cAMP response element-binding protein 1.


Cyclic AMP (cAMP) second messenger pathways provide a chief means by which cellular growth, differentiation, and function can be influenced by extracellular signals.

Following hormonal stimulation of a neuroendocrine cell, for example, increased cAMP levels activate cAMP-dependent protein kinase A, which phosphorylates 1 or more DNA-binding proteins. These in turn stimulate transcription of an array of cAMP-responsive genes such as those for somatostatin (MIM.182450), alpha-gonadotropin (MIM.118850), proenkephalin (MIM.131330) and FOS (MIM.164810).

All cAMP-responsive gene promoters have in common an 8-base enhancer known as the cAMP-response element (CRE) containing a conserved core sequence, 5-prime-TGACG-3-prime, first described in the somatostatin gene.


- CREB1-EWSR1 fusion gene fusion in


- EWSR1 Fusions With CREB Family Transcription Factors Define a Novel Myxoid Mesenchymal Tumor With Predilection for Intracranial Location. Kao YC, Sung YS, Zhang L, Chen CL, Vaiyapuri S, Rosenblum MK, Antonescu CR. Am J Surg Pathol. 2017 Apr;41(4):482-490. doi : 10.1097/PAS.0000000000000788 PMID: 28009602

- Antonescu CR, Dal Cin P, Nafa K, Teot LA, Surti U, Fletcher CD, Ladanyi M. EWSR1-CREB1 is the predominant gene fusion in angiomatoid fibrous histiocytoma. Genes Chromosomes Cancer. 2007 Aug 20; PMID: 17724745

- Antonescu CR, Nafa K, Segal NH, Dal Cin P, Ladanyi M. EWS-CREB1: a recurrent variant fusion in clear cell sarcoma—association with gastrointestinal location and absence of melanocytic differentiation. Clin Cancer Res 2006; 12: 5356-5362. Medline 17000668